Literature DB >> 6263521

Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease.

J S Mayes, J B Scheerer, R N Sifers, M L Donaldson.   

Abstract

A simple and sensitive fluorometric method has been described for the differential determination of the activity of lysosomal alpha-galactosidase A and alpha-galactosidase B. The procedure employs 4-methylumbelliferyl-alpha-D-galactopyranoside as substrate and N-acetylgalactosamine as an inhibitor of alpha-galactosidase B, but not of alpha-galactosidase A to differentiate the two activities. This method was shown to be applicable in the differentiation of the two enzyme activities in human tissues and in the diagnosis of the heterozygous and hemizygous genotypes for Fabry's disease in cultured skin fibroblasts.

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Year:  1981        PMID： 6263521     DOI： 10.1016/0009-8981(81)90384-3

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


  75 in total

1.  Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.

Authors:  S Ishii; H Sakuraba; Y Suzuki
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

2.  α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.

Authors:  Aleksandra Siekierska; Greet De Baets; Joke Reumers; Rodrigo Gallardo; Stanislav Rudyak; Kerensa Broersen; Jose Couceiro; Joost Van Durme; Joost Schymkowitz; Frederic Rousseau
Journal:  J Biol Chem       Date:  2012-07-06       Impact factor: 5.157

3.  The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.

Authors:  Z Lukacs; A Keil; A Kohlschütter; M Beck; E Mengel
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

4.  Cell line GM-4390 deficient in lysosomal alpha-galactosidase activity.

Authors:  C R Kaneski; K L Oliver; J M Quirk
Journal:  In Vitro Cell Dev Biol       Date:  1991-04

5.  Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease.

Authors:  Wei Zheng; Janak Padia; Daniel J Urban; Ajit Jadhav; Ozlem Goker-Alpan; Anton Simeonov; Ehud Goldin; Douglas Auld; Mary E LaMarca; James Inglese; Christopher P Austin; Ellen Sidransky
Journal:  Proc Natl Acad Sci U S A       Date:  2007-08-01       Impact factor: 11.205

6.  Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice.

Authors:  Hitoshi Sakuraba; Mai Murata-Ohsawa; Ikuo Kawashima; Youichi Tajima; Masaharu Kotani; Toshio Ohshima; Yasunori Chiba; Minako Takashiba; Yoshifumi Jigami; Tomoko Fukushige; Tamotsu Kanzaki; Kohji Itoh
Journal:  J Hum Genet       Date:  2005-12-22       Impact factor: 3.172

7.  The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.

Authors:  A C Vedder; G E Linthorst; M J van Breemen; J E M Groener; F J Bemelman; A Strijland; M M A M Mannens; J M F G Aerts; C E M Hollak
Journal:  J Inherit Metab Dis       Date:  2007-01-05       Impact factor: 4.982

8.  Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.

Authors:  J P Oliveira; S Ferreira; J Barceló; P Gaspar; F Carvalho; M C Sá Miranda; J-E Månsson
Journal:  J Inherit Metab Dis       Date:  2008-11-03       Impact factor: 4.982

9.  Serum-Mediated Inhibition of Enzyme Replacement Therapy in Fabry Disease.

Authors:  Malte Lenders; Jörg Stypmann; Thomas Duning; Boris Schmitz; Stefan-Martin Brand; Eva Brand
Journal:  J Am Soc Nephrol       Date:  2015-04-30       Impact factor: 10.121

10.  Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke.

Authors:  Marcella A Wozniak; Steven J Kittner; Stanley Tuhrim; John W Cole; Barney Stern; Mark Dobbins; Marie E Grace; Irina Nazarenko; Robert Dobrovolny; Eric McDade; Robert J Desnick
Journal:  Stroke       Date:  2009-12-10       Impact factor: 7.914
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